Ung th mu: mt on NST 21 Mu kh ng: gen ln trn X khng c trn Y Hng cu li lim: gen tri khng hon ton

n trn NST thng biu hin a hiu, thay A-T thnh T-A (b ba XAX thnh XTX) Tocno: NST gii tnh OX Bch tng: gen ln trn NST thng Macphan: gen tri a hiu trn NST thng Hi chng ao: 3 NST s 21 Claiphento: NST gii tnh XXY, kiu hnh l nam, chn tay di, thn cao khng bnh thng, tinh hon nh, si n, v sinh M mu lc: gen ln trn X khng c trn Y Dnh ngn tay 2 v 3 ngi: gen trn Y khng c trn X Hi chng siu n: XXX Hi chng patau: 3 NST s 13 C chm lng trn vnh tai: gen trn Y khng c trn X Ln bm sinh: gen t bin tri trn NST thng Bch cu c tnh: Mt on NST 21 hoc 22 Dic di truyn, cm ic bm sinh: gen t bin ln Tt xng chi ngn, ngn tay ngn: gen t bin tri Bnh pheninketonieu: gen ln nm trn NST thng Hi chng khc ting mo ku: do B NST u mt NST s 5 Edward: do t bin NST s 18 Mt s tt: 3 NST s 13 15: st mi, tha ngn, cht yu 3 NST s16 -18: ngn tr di hn ngn gia, tai thp, hm b Ung th bch cu c tnh: t bin chuyn on NST s 22 (on di) ngi ln NST s 9 (on nhn ngn) gy ung th bch cu c tnh hi chng siu nam: NST gii tnh XYY Tt Alcaptorinia : Do di truyn gen ln v thiu enzim bin i ancapton thnh axit axetoaxetic Bnh Tay-Sachs: t bin gen ln xy ra trong gen Dystrophin lin kt vi X * Mt s bnh do cc ri lon ln Ha x nang: Ngi b bnh ny c c im l tit ra mt lng d tha cht nhy dy phi, ty v cc c quan khc. Cc cht nhy ny c th lm nhiu lon s th, tiu ha v chc nng ca gan v lm cho ngi bnh ri vo nguy c vim phi v cc bnh truyn nhim khc Galactosemia: Tch ly Galactose cc m; tr n; tn thng mt v gan. (1/100.000; x l bng king Galactose). Gaucher : Gan v lch sng phng, thiu mu, xut huyt ni Hemochromatosis: C th gi li st; nguy c ly nhim cao, tn thng gan, tim v ty , tha sc t da Bnh hng cu lim (ng hp t):Tn thng lch v nhiu c quan; nguy c ly nhim cao (1/500 ngi M gc chu Phi; ng tri) Bnh Tay-Sachs: Tch ly Lipid trong cc t bo no gy suy thoi thn kinh; m mu; cht thi th u